Inborn errors of metabolism.
Inborn errors of metabolism often cause neurological dysfunction. These disorders are most common in childhood, but adult-onset forms with a different clinical presentation are encountered, examples being Pompe disease, Tay-Sachs disease, metachromatic leukodystrophy, Gaucher disease, and Maroteaux-Lamy disease. In the evaluation of a patient with a possible inborn error of metabolism, simple screening tests may aid in the diagnosis and provide direction for more comprehensive laboratory analysis. In most cases, diagnosis can be established without a brain biopsy through biochemical and ultrastructural analysis of peripheral tissues, blood, and urine. New clinical, genetic, and biochemical variants of inherited metabolic disorders are being recognized through wider application of screening tests, improved specificity of laboratory analysis, cell complementation experiments, and the identification of enzyme activator factors. Accurate diagnosis is important for medical management, determining prognosis, and genetic counseling.
D000309:Adrenal Insufficiency / Q000235:genetics; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D001259:Ataxia / Q000235:genetics; D002566:Ceroid / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005733:Gangliosidoses / Q000175:diagnosis; D006801:Humans; D007787:Lactose Intolerance / Q000175:diagnosis; D008062:Lipofuscin / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009081:Mucolipidoses / Q000175:diagnosis; D009422:Nervous System Diseases / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism; D013577:Syndrome
D002566:Ceroid; D008062:Lipofuscin; D011768:Pyruvate Dehydrogenase Complex